| Issue |
Med Sci (Paris)
Volume 35, Novembre 2019
Les Cahiers de Myologie
|
|
|---|---|---|
| Page(s) | 15 - 17 | |
| Section | Cas Clinique | |
| DOI | https://doi.org/10.1051/medsci/2019237 | |
| Published online | 20 December 2019 | |
Quand tous les chemins mènent à l’Afrique…
When all roads lead to Africa…
1
Centre de compétence neuromusculaire, 64700
Hendaye, France
2
Kuwait Medical Genetic Centre, Kuwait
Les myopathies congénitales constituent un ensemble hétérogène de maladies neuromusculaires aussi bien sur le plan clinique que génétique. Le séquençage à haut débit, ciblé ou non, couplé à l’analyse de la biopsie musculaire, facilite grandement leur caractérisation précise et conduisent parfois à des découvertes inattendues comme dans le cas rapporté ci-dessous d’une famille koweitienne en errance diagnostique depuis de nombreuses années.
Abstract
Congenital myopathies represent a quite heterogeneous group of neuromuscular disorders both at the clinical and genetic level. High-throughput sequencing (NGS), targeted or not, combined with muscle pathology, greatly facilitate their accurate characterization and occasionally lead to unexpected discoveries like in the case reported here in a Kuwaiti family facing a long diagnostic odyssey.
© 2019 médecine/sciences – Inserm
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.